TRHR Chromosome 8
Thyrotropin releasing hormone receptor
Upload your DNA to see your personal genotypes for variants in TRHR.
What This Gene Does
This gene encodes a G protein-coupled receptor for thyrotropin-releasing hormone (TRH). Upon binding to TRH, this receptor activates the inositol phospholipid-calcium-protein kinase C transduction pathway. Mutations in this gene have been associated with generalized thyrotropin-releasing hormone resistance. [provided by RefSeq, Sep 2011]
Gene Info
Gene Group
Peptide receptors
Locus Type
gene with protein product
Location
8q23.1
Ensembl
ENSG00000174417
Associated Conditions (4)
Hypothyroidism
congenital
nongoitrous
7
Key Variants
RS1586182837
Likely pathogenic
Hypothyroidism, congenital, nongoitrous
Health Risk
RS1586182912
Likely pathogenic
Hypothyroidism, congenital, nongoitrous
Health Risk
RS121917847
Pathogenic
Hypothyroidism, congenital, nongoitrous
Health Risk
RS771222349
Pathogenic
Hypothyroidism, congenital, nongoitrous
Health Risk
All Variants (4)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1586182837 | Health Risk | Likely pathogenic | Hypothyroidism, congenital, nongoitrous |
| RS1586182912 | Health Risk | Likely pathogenic | Hypothyroidism, congenital, nongoitrous |
| RS121917847 | Health Risk | Pathogenic | Hypothyroidism, congenital, nongoitrous |
| RS771222349 | Health Risk | Pathogenic | Hypothyroidism, congenital, nongoitrous |